Variant report

Variant	rs550438375
Chromosome Location	chr16:30961202-30961203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30960272..30961849-chr16:31152765..31155468,2	K562	blood:
2	chr16:30959999..30961967-chr16:31197956..31199862,2	K562	blood:
3	chr16:30961038..30961636-chr5:38845963..38846496,2	Hela-S3	cervix:
4	chr16:30670452..30672304-chr16:30960476..30962244,2	MCF-7	breast:
5	chr16:30951689..30954966-chr16:30957894..30961243,5	MCF-7	breast:
6	chr16:30951026..30955016-chr16:30956656..30961515,9	MCF-7	breast:
7	chr16:30959011..30961742-chr16:31104551..31107586,3	K562	blood:
8	chr16:30932022..30936181-chr16:30958194..30961985,7	K562	blood:
9	chr16:30960089..30961847-chr16:31189954..31192995,3	MCF-7	breast:
10	chr16:30959582..30963121-chr16:31518179..31521498,3	K562	blood:
11	chr16:30959796..30961964-chr16:31083531..31085505,2	MCF-7	breast:
12	chr16:30960985..30961906-chr20:47894763..47895691,3	Hela-S3	cervix:
13	chr16:30907150..30909100-chr16:30959100..30961392,2	MCF-7	breast:
14	chr16:30960287..30962281-chr16:31451872..31454552,2	MCF-7	breast:
15	chr16:30958903..30961424-chr16:31206052..31208259,2	MCF-7	breast:
16	chr16:30959935..30962843-chr16:31083365..31086256,4	MCF-7	breast:
17	chr16:30960093..30962910-chr16:31117078..31118783,2	K562	blood:
18	chr16:30960242..30962054-chr16:31106031..31107586,2	K562	blood:
19	chr16:30770838..30772695-chr16:30960014..30962052,2	K562	blood:
20	chr16:30931619..30936181-chr16:30955998..30963201,14	K562	blood:
21	chr16:30960007..30962579-chr16:31723261..31726293,3	MCF-7	breast:
22	chr16:30960366..30961296-chr6:88411722..88412389,2	Hela-S3	cervix:
23	chr16:30933979..30936655-chr16:30960385..30962981,2	MCF-7	breast:
24	chr16:30959192..30961458-chr16:31007681..31010044,2	K562	blood:
25	chr16:30709030..30710951-chr16:30959452..30961503,2	MCF-7	breast:
26	chr16:30775867..30778548-chr16:30959923..30961895,2	K562	blood:
27	chr16:30775867..30779905-chr16:30959923..30961895,3	K562	blood:
28	chr16:30759480..30761817-chr16:30958726..30961352,2	MCF-7	breast:
29	chr16:30960059..30961905-chr16:31190072..31192072,2	MCF-7	breast:
30	chr16:30958395..30965480-chr16:31189619..31195213,11	K562	blood:
31	chr16:30960892..30961766-chrX:118740243..118740846,2	Hela-S3	cervix:
32	chr16:30958732..30963097-chr16:31189619..31195213,8	K562	blood:
33	chr16:30960961..30961866-chr5:32174580..32175130,2	Hela-S3	cervix:
34	chr16:30796419..30799477-chr16:30959308..30961978,4	MCF-7	breast:
35	chr16:30960482..30963722-chr16:31009124..31011668,3	K562	blood:
36	chr12:52546103..52546684-chr16:30960984..30961946,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000102870	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000124201	Chromatin interaction
ENSG00000260625	Chromatin interaction
ENSG00000260060	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000260304	Chromatin interaction
ENSG00000209042	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000196118	Chromatin interaction
ENSG00000135334	Chromatin interaction
ENSG00000176723	Chromatin interaction
ENSG00000177410	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000145623	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000197302	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000261731	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000167395	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
6	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
7	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
8	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
9	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
10	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
11	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
12	nsv905736	chr16:30900235-30995528	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
13	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
14	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
15	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
16	nsv905738	chr16:30906274-30973926	Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
17	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
18	nsv482192	chr16:30960405-30966258	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	38 gene(s)	inside rSNPs	n/a
19	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30958000-30962200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr16:30958800-30961600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr16:30958800-30961600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr16:30959000-30961400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr16:30959000-30961400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:30959200-30961400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr16:30959400-30961400	Active TSS	Fetal Kidney	kidney
8	chr16:30959400-30961400	Active TSS	Ovary	ovary
9	chr16:30959400-30961800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:30959600-30961600	Active TSS	Small Intestine	intestine
11	chr16:30959600-30961800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:30959600-30962000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:30959800-30961400	Active TSS	Psoas Muscle	Psoas
14	chr16:30959800-30961800	Flanking Active TSS	Placenta	Placenta
15	chr16:30959800-30962400	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr16:30960000-30961400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:30960000-30961400	Active TSS	Placenta Amnion	Placenta Amnion
18	chr16:30960000-30961600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr16:30960000-30962000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:30960000-30962200	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr16:30960200-30961400	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr16:30960200-30963200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:30960400-30961400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr16:30960400-30962000	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr16:30960800-30961400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr16:30960800-30961600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr16:30960800-30961800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr16:30960800-30961800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr16:30960800-30961800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr16:30960800-30962000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr16:30960800-30962000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr16:30960800-30962000	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr16:30960800-30962000	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr16:30960800-30962000	Flanking Active TSS	Fetal Thymus	thymus
35	chr16:30960800-30962200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr16:30960800-30962400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr16:30960800-30962400	Enhancers	Dnd41	blood
38	chr16:30961000-30961400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr16:30961000-30961400	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr16:30961000-30961400	Active TSS	Right Atrium	heart
41	chr16:30961000-30961600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:30961000-30961600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr16:30961000-30961600	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr16:30961000-30961600	Flanking Active TSS	Esophagus	oesophagus
45	chr16:30961000-30961600	Flanking Active TSS	Fetal Brain Female	brain
46	chr16:30961000-30961600	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr16:30961000-30961600	Flanking Active TSS	Fetal Stomach	stomach
48	chr16:30961000-30961600	Flanking Active TSS	Gastric	stomach
49	chr16:30961000-30961600	Flanking Active TSS	Left Ventricle	heart
50	chr16:30961000-30961600	Flanking Active TSS	Right Ventricle	heart

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