Variant report

Variant	rs557113485
Chromosome Location	chr7:6432477-6432478
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6431756..6435735-chr7:6436671..6439752,6	MCF-7	breast:
2	chr7:6412666..6416399-chr7:6429961..6432840,4	MCF-7	breast:
3	chr7:6431775..6434050-chr7:6443689..6446584,2	K562	blood:
4	chr7:6413960..6415587-chr7:6430551..6433223,4	K562	blood:
5	chr7:6425039..6427961-chr7:6431283..6434070,6	K562	blood:

Variant related genes	Relation type
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr7:6417200-6435400	Weak transcription	Fetal Brain Male	brain
2	chr7:6425400-6432600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:6425800-6432600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:6426000-6456400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:6426400-6457400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:6426600-6432600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:6426600-6434200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:6426600-6434400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:6426600-6436200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:6426800-6432600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:6426800-6434600	Strong transcription	HepG2	liver
13	chr7:6426800-6436200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:6426800-6436400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:6426800-6436600	Strong transcription	Dnd41	blood
16	chr7:6427000-6433000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:6427000-6433000	Strong transcription	Fetal Thymus	thymus
18	chr7:6427000-6436400	Strong transcription	Fetal Stomach	stomach
19	chr7:6427200-6433600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:6427200-6434200	Strong transcription	Fetal Brain Female	brain
21	chr7:6427400-6434600	Strong transcription	Primary T cells from cord blood	blood
22	chr7:6427600-6435600	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:6428400-6432600	Weak transcription	Colonic Mucosa	Colon
24	chr7:6428600-6432600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:6429600-6433400	Enhancers	Stomach Mucosa	stomach
26	chr7:6429600-6437600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:6429800-6436200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
28	chr7:6430600-6433200	Genic enhancers	Monocytes-CD14+_RO01746	blood
29	chr7:6430600-6434400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:6430600-6435400	Genic enhancers	Fetal Intestine Large	intestine
31	chr7:6430600-6435800	Genic enhancers	Rectal Mucosa Donor 31	rectum
32	chr7:6430600-6436000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:6430600-6436000	Genic enhancers	Fetal Intestine Small	intestine
34	chr7:6430600-6436200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:6430600-6436400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr7:6430800-6433000	Strong transcription	Primary B cells from cord blood	blood
37	chr7:6430800-6434400	Genic enhancers	NHDF-Ad	bronchial
38	chr7:6431000-6432600	Strong transcription	Placenta	Placenta
39	chr7:6431000-6432800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr7:6431000-6433600	Strong transcription	Fetal Kidney	kidney
41	chr7:6431000-6434200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr7:6431200-6433200	Genic enhancers	Duodenum Mucosa	Duodenum
43	chr7:6431200-6433600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:6431200-6434000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:6431200-6434200	Strong transcription	Brain Germinal Matrix	brain
46	chr7:6431400-6432600	Strong transcription	Fetal Lung	lung
47	chr7:6431400-6432600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr7:6431400-6434200	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr7:6431400-6435800	Genic enhancers	Primary monocytes fromperipheralblood	blood
50	chr7:6431400-6436200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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