Variant report

Variant	rs10963971
Chromosome Location	chr9:19120752-19120753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:19117804-19125720	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:19112387-19127891	HepG2	liver:	n/a	n/a
3	POLR2A	chr9:19115548-19121870	HepG2	liver:	n/a	n/a
4	POLR2A	chr9:19117792-19121458	HepG2	liver:	n/a	n/a
5	POLR2A	chr9:19112585-19128688	PBDE	blood:	n/a	n/a
6	POLR2A	chr9:19120696-19121750	HepG2	liver:	n/a	n/a
7	POLR2A	chr9:19120691-19120810	HepG2	liver:	n/a	n/a
8	HEY1	chr9:19117848-19127999	HepG2	liver:	n/a	chr9:19127726-19127741 chr9:19127724-19127739 chr9:19127361-19127376

No.	Distal block	Cell Line	Cell type
1	chr9:19119220..19121028-chr9:19122006..19124316,2	K562	blood:
2	chr9:19101008..19104571-chr9:19119588..19122820,3	MCF-7	breast:
3	chr9:19120570..19124590-chr9:19125970..19130053,4	MCF-7	breast:
4	chr9:19119290..19121430-chr9:19125172..19128081,4	MCF-7	breast:
5	chr9:19114306..19116374-chr9:19119106..19120885,2	K562	blood:

Variant related genes	Relation type
PLIN2	TF binding region
ENSG00000147872	Chromatin interaction
ENSG00000147874	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10121144	1.00[CHB][hapmap]
rs10963970	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12377838	1.00[CHB][hapmap]
rs28619004	1.00[ASN][1000 genomes]
rs7031878	1.00[CHB][hapmap]
rs7032675	1.00[CHB][hapmap]
rs7033729	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv892700	chr9:18979441-19156784	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1028623	chr9:19034742-19394712	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv540079	chr9:19034742-19394712	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv430003	chr9:19074740-19247826	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv870340	chr9:19077714-19143230	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1018947	chr9:19094894-19394712	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
9	nsv1033552	chr9:19104662-19131866	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19103400-19126400	Weak transcription	Fetal Brain Male	brain
2	chr9:19103600-19121000	Weak transcription	Right Atrium	heart
3	chr9:19110600-19126400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:19112000-19122800	Strong transcription	Primary T cells from cord blood	blood
5	chr9:19113400-19122400	Enhancers	Hela-S3	cervix
6	chr9:19113400-19124400	Strong transcription	Fetal Stomach	stomach
7	chr9:19113400-19126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:19113800-19124200	Strong transcription	Fetal Muscle Leg	muscle
9	chr9:19114000-19121600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:19114000-19122000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr9:19114000-19122400	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr9:19114000-19122800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr9:19114000-19123000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr9:19114000-19123000	Strong transcription	Placenta Amnion	Placenta Amnion
15	chr9:19114000-19124200	Strong transcription	Fetal Intestine Large	intestine
16	chr9:19114000-19124800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr9:19114000-19126000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr9:19114200-19121200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
19	chr9:19114200-19122400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:19114200-19124200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr9:19114200-19124800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr9:19114200-19126200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:19114400-19123200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr9:19114400-19124000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr9:19114400-19124000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr9:19114600-19121400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr9:19114600-19122200	Strong transcription	Duodenum Mucosa	Duodenum
28	chr9:19114600-19123600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:19114600-19123600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr9:19114600-19123600	Strong transcription	Spleen	Spleen
31	chr9:19114800-19121200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr9:19114800-19121200	Genic enhancers	NHDF-Ad	bronchial
33	chr9:19114800-19121400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:19114800-19123400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr9:19114800-19123600	Strong transcription	Brain Substantia Nigra	brain
36	chr9:19114800-19123600	Strong transcription	Fetal Thymus	thymus
37	chr9:19114800-19124800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:19114800-19126000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr9:19114800-19126000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr9:19115000-19121400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
41	chr9:19115000-19121600	Strong transcription	Brain Cingulate Gyrus	brain
42	chr9:19115000-19121600	Strong transcription	Thymus	Thymus
43	chr9:19115000-19123000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr9:19115000-19123400	Strong transcription	Dnd41	blood
45	chr9:19115000-19123800	Strong transcription	Fetal Kidney	kidney
46	chr9:19115000-19124200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr9:19115000-19125200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr9:19115200-19124000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:19115400-19121400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr9:19115600-19121400	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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