Variant report

Variant	rs575148696
Chromosome Location	chr6:128419231-128419232
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:128417947..128420463-chr6:128424215..128426639,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv604643	chr6:128359362-128493991	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv604644	chr6:128394889-128486139	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv516794	chr6:128403745-128430506	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv886650	chr6:128403745-128513395	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1031827	chr6:128418702-128497881	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2763955	chr6:128418714-128436415	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128289000-128431000	Weak transcription	Psoas Muscle	Psoas
2	chr6:128374600-128419400	Weak transcription	Esophagus	oesophagus
3	chr6:128375000-128419400	Weak transcription	Gastric	stomach
4	chr6:128375000-128433800	Weak transcription	Aorta	Aorta
5	chr6:128379000-128432800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:128385800-128419400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:128389000-128419400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:128389000-128419400	Weak transcription	Pancreas	Pancrea
9	chr6:128389600-128419400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:128390800-128419600	Weak transcription	NH-A	brain
11	chr6:128398800-128419400	Weak transcription	HMEC	breast
12	chr6:128399000-128422600	Weak transcription	HUVEC	blood vessel
13	chr6:128401400-128419400	Weak transcription	Small Intestine	intestine
14	chr6:128401400-128431800	Weak transcription	Right Ventricle	heart
15	chr6:128401600-128419600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:128401800-128433600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:128403800-128419400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:128403800-128420800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:128403800-128421600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:128404000-128438000	Weak transcription	Fetal Thymus	thymus
21	chr6:128404400-128422000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:128405000-128431400	Weak transcription	Primary B cells from cord blood	blood
23	chr6:128406600-128433000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr6:128410400-128421200	Weak transcription	NHEK	skin
25	chr6:128411000-128419400	Weak transcription	Osteobl	bone
26	chr6:128411000-128433600	Weak transcription	HSMMtube	muscle
27	chr6:128411200-128419400	Weak transcription	Left Ventricle	heart
28	chr6:128411200-128419800	Weak transcription	HSMM	muscle
29	chr6:128411200-128420800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:128411200-128424600	Weak transcription	Fetal Intestine Small	intestine
31	chr6:128411200-128433800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:128411200-128433800	Weak transcription	Fetal Stomach	stomach
33	chr6:128411200-128433800	Weak transcription	Ovary	ovary
34	chr6:128411600-128445600	Weak transcription	HepG2	liver
35	chr6:128417400-128420000	Enhancers	Fetal Heart	heart
36	chr6:128417800-128419400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:128418400-128419400	Weak transcription	Brain Angular Gyrus	brain
38	chr6:128418400-128419400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:128418400-128419400	Weak transcription	Right Atrium	heart
40	chr6:128418400-128419600	Weak transcription	Brain Hippocampus Middle	brain
41	chr6:128418400-128422400	Weak transcription	Liver	Liver
42	chr6:128419200-128419400	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr6:128419200-128419400	Active TSS	Brain Substantia Nigra	brain
44	chr6:128419200-128419600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:128419200-128419600	Enhancers	Fetal Brain Female	brain
46	chr6:128419200-128419800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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