Variant report

Variant	rs4985707
Chromosome Location	chr17:17231250-17231251
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17228475..17230243-chr17:17230448..17232701,2	K562	blood:
2	chr17:17208563..17211113-chr17:17230202..17232936,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS 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 target site	19 gene(s)	inside rSNPs	diseases
5	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv3321712	chr17:17228427-17233225	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3347241	chr17:17229227-17232425	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3324358	chr17:17229452-17232600	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3522166	chr17:17229670-17231772	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3377670	chr17:17229677-17232275	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3314573	chr17:17229872-17231574	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv6568	chr17:17230126-17231377	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3522167	chr17:17230164-17231353	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3407354	chr17:17230177-17231775	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv2813	chr17:17230183-17231341	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3314575	chr17:17230198-17231320	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3522162	chr17:17230213-17231298	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3314576	chr17:17230233-17231292	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3522165	chr17:17230240-17231318	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3314577	chr17:17230240-17231332	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv3522164	chr17:17230296-17231281	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv3314572	chr17:17230308-17231305	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv3522161	chr17:17230321-17231305	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv3352582	chr17:17230341-17231275	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv3314571	chr17:17230361-17231255	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv3314578	chr17:17230375-17231258	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	esv3522168	chr17:17230375-17231258	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17207400-17235400	Weak transcription	Lung	lung
2	chr17:17207600-17246400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:17207800-17243400	Weak transcription	Colon Smooth Muscle	Colon
4	chr17:17208600-17255400	Weak transcription	Brain Substantia Nigra	brain
5	chr17:17208800-17236000	Weak transcription	Right Ventricle	heart
6	chr17:17210600-17233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:17213000-17248000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr17:17215600-17231400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:17215600-17252800	Weak transcription	Fetal Lung	lung
10	chr17:17216600-17240800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:17217000-17231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr17:17217200-17253800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr17:17218600-17239800	Weak transcription	Fetal Thymus	thymus
14	chr17:17219000-17231400	Weak transcription	K562	blood
15	chr17:17219000-17255400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr17:17224600-17248200	Weak transcription	Pancreas	Pancrea
17	chr17:17226000-17235600	Weak transcription	Spleen	Spleen
18	chr17:17226200-17232000	Strong transcription	Primary hematopoietic stem cells	blood
19	chr17:17226600-17251200	Weak transcription	Primary T cells from cord blood	blood
20	chr17:17226800-17246800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:17227200-17254000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr17:17228200-17258200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr17:17228600-17255000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr17:17228800-17245600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr17:17229000-17245800	Weak transcription	Dnd41	blood
26	chr17:17229200-17247400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr17:17229200-17255200	Weak transcription	Brain Hippocampus Middle	brain
28	chr17:17229400-17247800	Weak transcription	Fetal Intestine Small	intestine
29	chr17:17229600-17245600	Weak transcription	Brain Angular Gyrus	brain
30	chr17:17229600-17246000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr17:17229800-17231400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr17:17229800-17231400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:17229800-17258400	Weak transcription	Thymus	Thymus
34	chr17:17230000-17245800	Weak transcription	Brain Germinal Matrix	brain
35	chr17:17230000-17246400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:17230000-17250000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr17:17230200-17231400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr17:17230200-17231600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr17:17230200-17232400	Weak transcription	Gastric	stomach
40	chr17:17230200-17235400	Weak transcription	Fetal Stomach	stomach
41	chr17:17230200-17236600	Weak transcription	Ovary	ovary
42	chr17:17230200-17245400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr17:17230200-17245400	Weak transcription	Fetal Muscle Leg	muscle
44	chr17:17230200-17246000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr17:17230200-17250600	Weak transcription	Adipose Nuclei	Adipose
46	chr17:17230200-17252200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr17:17230200-17258200	Weak transcription	Brain Anterior Caudate	brain
48	chr17:17231200-17232200	Strong transcription	Fetal Brain Female	brain

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